International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Ana Peixoto (Author) Other; Catarina Santos (Author) Other; Manuela Pinheiro (Author) Other; Pedro Pinto (Author) Other; Maria Jose Soares (Author) Other; Patricia Rocha (Author) Other; Leonor Gusmao (Author) Other; Antonio Amorim (Author) FCUP; Annemarie van der Hout (Author) Other; Anne Marie Gerdes (Author) Other; Mads Thomassen (Author) Other; Torben A Kruse (Author) Other; Dorthe Cruger (Author) Other; Lone Sunde (Author) Other; Yves Jean Bignon (Author) Other; Nancy Uhrhammer (Author) Other; Lucie Cornil (Author) Other; Etienne Rouleau (Author) Other; Rosette Lidereau (Author) Other; Drakoulis Yannoukakos (Author) Other; Maroulio Pertesi (Author) Other; Steven Narod (Author) Other; Robert Royer (Author) Other; Mauricio M Costa (Author) Other; Conxi Lazaro (Author) Other; Lidia Feliubadalo (Author) Other; Begona Grana (Author) Other; Ignacio Blanco (Author) Other; Miguel de la Hoya (Author) Other; Trinidad Caldes (Author) Other; Philippe Maillet (Author) Other; Gaelle Benais Pont (Author) Other; Bruno Pardo (Author) Other; Yael Laitman (Author) Other; Eitan Friedman (Author) Other; Eladio A Velasco (Author) Other; Mercedes Duran (Author) Other; Maria Dolores Miramar (Author) Other; Ana R Rodriguez Valle (Author) Other; Maria Teresa Calvo (Author) Other; Ana Vega (Author) Other; Ana Blanco (Author) Other; Orland Diez (Author) Other; Sara Gutierrez Enriquez (Author) Other; Judith Balmana (Author) Other; Teresa R Y Ramon y Cajal (Author) Other; Carmen Alonso (Author) Other; Montserrat Baiget (Author) Other; William Foulkes (Author) Other; Marc Tischkowitz (Author) Other; Rachel Kyle (Author) Other; Nelly Sabbaghian (Author) Other; Patricia Ashton Prolla (Author) Other; Ingrid P Ewald (Author) Other; Thangarajan Rajkumar (Author) Other; Luisa Mota Vieira (Author) Other; Giuseppe Giannini (Author) Other; Alberto Gulino (Author) Other; Maria I Achatz (Author) Other; Dirce M Carraro (Author) Other; Brigitte Bressac de Paillerets (Author) Other; Audrey Remenieras (Author) Other; Cindy Benson (Author) Other; Silvia Casadei (Author) Other; Mary Claire King (Author) Other; Erik Teugels (Author) Other; Manuel R Teixeira (Author) ICBAS

Journal

Title: Breast Cancer Research and Treatment

Vol. 127

Pages: 671-679

ISSN: 0167-6806

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 25 Citations

Scopus - 26 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-002-R1G

DOI: 10.1007/s10549-010-1036-3

Abstract (EN): The c.156_157insAlu BRCA2 mutation has so far only been reported in hereditary breast/ovarian cancer (HBOC) families of Portuguese origin. Since this mutation is not detectable using the commonly used screening methodologies and must be specifically sought, we screened for this rearrangement in a total of 5,443 suspected HBOC families from several countries. Whereas the c.156_157insAlu BRCA2 mutation was detected in 11 of 149 suspected HBOC families from Portugal, representing 37.9% of all deleterious mutations, in other countries it was detected only in one proband living in France and in four individuals requesting predictive testing living in France and in the USA, all being Portuguese immigrants. After performing an extensive haplotype study in carrier families, we estimate that this founder mutation occurred 558 +/- A 215 years ago. We further demonstrate significant quantitative differences regarding the production of the BRCA2 full length RNA and the transcript lacking exon 3 in c.156_157insAlu BRCA2 mutation carriers and in controls. The cumulative incidence of breast cancer in carriers did not differ from that of other BRCA2 and BRCA1 pathogenic mutations. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry are specifically tested for this rearrangement.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 9